Chronic Refractory Immune Thrombocytopenia Is Associated With Variants in Immune Genes

Chronic Refractory Immune Thrombocytopenia Is Associated With Variants in Immune Genes

The pathogenesis of chronic refractory immune thrombocytopenia (C/RITP) is mechanistically complex and considerably varies across patients. Few studies have focused on the genetic characteristics of C/RITP in children. The aim of this study was to analyze and summarize the clinical manifestations an...

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Autores principales: Shasha Zhao MD, Jingyao Ma MD, Xiaojing Zhu MM, Jialu Zhang MM, Runhui Wu MD
Formato: article
Lenguaje:EN
Publicado: SAGE Publishing 2021
Materias:
Diseases of the circulatory (Cardiovascular) system
RC666-701
Acceso en línea:https://doaj.org/article/d5b39ffe18fb48daba192331653088be
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spelling oai:doaj.org-article:d5b39ffe18fb48daba192331653088be2021-11-18T00:03:22ZChronic Refractory Immune Thrombocytopenia Is Associated With Variants in Immune Genes1938-272310.1177/10760296211059813https://doaj.org/article/d5b39ffe18fb48daba192331653088be2021-11-01T00:00:00Zhttps://doi.org/10.1177/10760296211059813https://doaj.org/toc/1938-2723The pathogenesis of chronic refractory immune thrombocytopenia (C/RITP) is mechanistically complex and considerably varies across patients. Few studies have focused on the genetic characteristics of C/RITP in children. The aim of this study was to analyze and summarize the clinical manifestations and genetic characteristics of C/RITP children with mutations in immune-related genes. In the study, 51 children with variants in immune-related genes (mutation group) and 103 children with no abnormal mutations (control group) were enrolled. Children in the mutation group showed severity of hemorrhage, a higher incidence of abnormal immunological indices, and an increased expression of SLE biomarkers. The number of peripheral T and B lymphocytes in the mutation group significantly increased. Nine patients (17.6%) had probable pathogenic variant genes associated with primary immunodeficiencies ( TNFRSF13B , CARD11 , CBL , and RAG2 ), and 42 patients (82.4%) had variants of uncertain significance in 23 genes. C/RITP patients with variants in immune-related genes had more severe bleeding, abnormal immunological indices, and an increased expression of SLE biomarker. Next-generation sequenciong (NGS) might be a useful way to differentiate those patients from C/RITP.Shasha Zhao MDJingyao Ma MDXiaojing Zhu MMJialu Zhang MMRunhui Wu MDSAGE PublishingarticleDiseases of the circulatory (Cardiovascular) systemRC666-701ENClinical and Applied Thrombosis/Hemostasis, Vol 27 (2021)
institution DOAJ
collection DOAJ
language EN
topic Diseases of the circulatory (Cardiovascular) system
RC666-701
spellingShingle Diseases of the circulatory (Cardiovascular) system
RC666-701
Shasha Zhao MD
Jingyao Ma MD
Xiaojing Zhu MM
Jialu Zhang MM
Runhui Wu MD
Chronic Refractory Immune Thrombocytopenia Is Associated With Variants in Immune Genes
description The pathogenesis of chronic refractory immune thrombocytopenia (C/RITP) is mechanistically complex and considerably varies across patients. Few studies have focused on the genetic characteristics of C/RITP in children. The aim of this study was to analyze and summarize the clinical manifestations and genetic characteristics of C/RITP children with mutations in immune-related genes. In the study, 51 children with variants in immune-related genes (mutation group) and 103 children with no abnormal mutations (control group) were enrolled. Children in the mutation group showed severity of hemorrhage, a higher incidence of abnormal immunological indices, and an increased expression of SLE biomarkers. The number of peripheral T and B lymphocytes in the mutation group significantly increased. Nine patients (17.6%) had probable pathogenic variant genes associated with primary immunodeficiencies ( TNFRSF13B , CARD11 , CBL , and RAG2 ), and 42 patients (82.4%) had variants of uncertain significance in 23 genes. C/RITP patients with variants in immune-related genes had more severe bleeding, abnormal immunological indices, and an increased expression of SLE biomarker. Next-generation sequenciong (NGS) might be a useful way to differentiate those patients from C/RITP.
format article
author Shasha Zhao MD
Jingyao Ma MD
Xiaojing Zhu MM
Jialu Zhang MM
Runhui Wu MD
author_facet Shasha Zhao MD
Jingyao Ma MD
Xiaojing Zhu MM
Jialu Zhang MM
Runhui Wu MD
author_sort Shasha Zhao MD
title Chronic Refractory Immune Thrombocytopenia Is Associated With Variants in Immune Genes
title_short Chronic Refractory Immune Thrombocytopenia Is Associated With Variants in Immune Genes
title_full Chronic Refractory Immune Thrombocytopenia Is Associated With Variants in Immune Genes
title_fullStr Chronic Refractory Immune Thrombocytopenia Is Associated With Variants in Immune Genes
title_full_unstemmed Chronic Refractory Immune Thrombocytopenia Is Associated With Variants in Immune Genes
title_sort chronic refractory immune thrombocytopenia is associated with variants in immune genes
publisher SAGE Publishing
publishDate 2021
url https://doaj.org/article/d5b39ffe18fb48daba192331653088be
work_keys_str_mv AT shashazhaomd chronicrefractoryimmunethrombocytopeniaisassociatedwithvariantsinimmunegenes
AT jingyaomamd chronicrefractoryimmunethrombocytopeniaisassociatedwithvariantsinimmunegenes
AT xiaojingzhumm chronicrefractoryimmunethrombocytopeniaisassociatedwithvariantsinimmunegenes
AT jialuzhangmm chronicrefractoryimmunethrombocytopeniaisassociatedwithvariantsinimmunegenes
AT runhuiwumd chronicrefractoryimmunethrombocytopeniaisassociatedwithvariantsinimmunegenes
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